|Tay Sachs Disease|
Mutations in alpha-subunit locus of hexosaminidase located on chromosome A.
Accumulation of GM2 gangliosides within all cells.
Neural damage in which the overstuffed neurons eventually die dominates the clinical picture.,
Most common form of GM2 gangliosidosis.
Carrier rate of 1/30 Ashkenazic Jews
|General Gross Description|
The brain is generally heavier than normal.
It is much tougher than normal.
|General Microscopic Description|
GM2 glanglioside accumulates everywhere.
Neurons filled with distended lysosomes forming vacuoles.
Fat stains positive.
Electron microscopy shows concentric membranes stuffed inside lysosomes.
Results in necrosis of neurons with "scarring" with microglia.
Cotran RS, Kumar V, Robbins SL: Robbins Pathologic Basis of Disease. 5th ed. Philadelphia, W.B. Saunders, 1994, pp. 139-141.
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|Tay Sachs Disease
||Synopsis by: Melinda Sanders M.D. (TX7410D14530)